chr17:7670685:G>A Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,574,003-7,574,003 View the variant detail on this assembly version.
hg38 chr17:7,670,685-7,670,685

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.1024C>T NP_000537.3:p.Arg342Ter
NM_001126112.2:c.1024C>T NP_001119584.1:p.Arg342Ter
NM_001276760.1:c.1024C>T NP_001263689.1:p.Arg342Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM11073 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/10/19 squamous cell carcinoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-03-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-03-25 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2020-10-30 no assertion criteria provided gallbladder cancer somatic Detail
Pathogenic 2021-08-09 no assertion criteria provided germline Detail
Pathogenic 2024-02-21 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Bone marrow failure syndrome 5,Glioma susceptibility 1,Li-Fraumeni syndrome 1,colorectal cancer,choroid plexus papilloma,Familial cancer of breast,Carcinoma of pancreas,bone osteosarcoma,Nasopharyngeal carcinoma unknown Detail
Pathogenic 2022-10-28 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND not provided ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Gallbladder cancer ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Colonic diverticula ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs730882029 dbSNP
Genome
hg38
Position
chr17:7,670,685-7,670,685
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser